Canonical Allele Identifier: CA6749065
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2167364
ClinVar RCV Id: RCV003099019
dbSNP Id: rs763623193

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917109T>C , CM000674.2:g.102917109T>C GRCh38
NC_000012.11:g.103310887T>C , CM000674.1:g.103310887T>C GRCh37
NC_000012.10:g.101835017T>C NCBI36
NG_008690.1:g.5494A>G
NG_008690.2:g.46302A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.22A>G MANE Select ENSP00000448059.1:p.Asn8Asp
ENST00000307000.7:c.-126A>G ENSP00000303500.2:n.-126A>G
ENST00000546844.1:c.22A>G ENSP00000446658.1:p.Asn8Asp
ENST00000547319.1:n.333A>G
ENST00000549111.5:n.118A>G
ENST00000550978.6:c.6A>G
ENST00000551337.5:c.22A>G ENSP00000447620.1:p.Asn8Asp
ENST00000551988.5:n.111A>G
ENST00000553106.5:c.22A>G ENSP00000448059.1:p.Asn8Asp
ENST00000635500.1:n.29-4211A>G
NM_000277.1:c.22A>G NP_000268.1:p.Asn8Asp
XM_011538422.1:c.22A>G XP_011536724.1:p.Asn8Asp
NM_000277.2:c.22A>G NP_000268.1:p.Asn8Asp
NM_001354304.1:c.22A>G NP_001341233.1:p.Asn8Asp
XM_017019370.2:c.22A>G XP_016874859.1:p.Asn8Asp
NM_000277.3:c.22A>G MANE Select NP_000268.1:p.Asn8Asp
NM_001354304.2:c.22A>G NP_001341233.1:p.Asn8Asp